Varaico: Literature-Extracted Genetic Variants

SCN5A

2,996 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible f...

Pfam Domains

Ion_transaa 130–423UCSCIon transport protein

Na_trans_cytoplaa 507–667UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 716–949UCSCIon transport protein

Na_trans_assocaa 953–1200UCSCSodium ion transport-associated

Ion_transaa 1204–1481UCSCIon transport protein

Ion_transaa 1527–1783UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 5

HGNC Previous Symbol

CMD1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_000335.5

p.S1218I

c.3653G>T

Surrounding Variants

2 papers

NM_198056.3

p.S1219N

c.3656G>A

1 paper

NM_198056.3

p.S1218I

c.3653G>T

1 paper

NM_000335.5

p.G1219E

c.3656G>A

1 paper

NM_000335.5

p.A1220delFs

c.3659delG

2 papers

NM_000335.5

p.L1221R

c.3662T>G

1 paper

NM_198056.3

p.L1222delFs

c.3666delC

2 papers

NM_198056.3

p.I1212del1

c.3634_3635delGAT

NM_000335.5

p.I1211del1

c.3634_3636delGAT

1 paper

NM_000335.5

p.L1221_A1222Splc

c.3663+10T>C

4 papers

NM_198056.3

p.E1208*

c.3622G>T

NM_000335.5

p.E1207*

c.3619G>T

1 paper

NM_000335.5

p.E1207Q

c.3619G>C

1 paper

NM_198056.3

p.F1207F

c.3621C>T

1 paper

NM_000335.5

p.F1206I

c.3616T>A